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Harlequin ichthyosis newborn: A case report. [PDF]

SAGE Open Medical Case Reports, 2022
Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses.
Maryam Nikbina
exaly   +3 more sources

Harlequin ichthyosis: A case report and literature review [PDF]

Clinical Case Reports (discontinued), 2022
Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors.
Abhigan babu shrestha, Romana Riyaz
exaly   +3 more sources

Harlequin ichthyosis: A case report of severe presentation in Eritrea [PDF]

Clinical Case Reports (discontinued), 2020
The severe form of harlequin ichthyosis is often lethal in the perinatal period, and it is commonly a product of consanguineous parents. Therefore, in vitro fertilization and pregenetic diagnosis are recommended to avoid the recurrence of the error.
Tarig Gasim Mohamed Alarabi
exaly   +3 more sources

Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature [PDF]

Children, 2022
Harlequin ichthyosis (HI) is a life-threatening genetic disorder that largely affects the skin of infants. HI is the most severe form of the autosomal recessive disorder known as ichthyosis.
Karachrysafi Sofia, Theodora Papamitsou, Dimitrios Kavvadas   +2 more
exaly   +4 more sources

Harlequin Ichthyosis: A Case Report [PDF]

Clinical Case Reports
Harlequin ichthyosis (HI) is a genetic disorder caused by ABCA12 gene mutations, presenting with thick, scaly skin and deep fissures. Early recognition, intensive neonatal care, and multidisciplinary management are crucial for improving survival and ...
Shoaib Akhtar, Adeel Anwaar, Inam Ul Haq, Hazaq Mukhtar, Sabir Jamal, Muhammad Muzammil, Aymar Akilimali   +6 more
doaj   +4 more sources

Harlequin ichthyosis: A case image from Syria [PDF]

Clinical Case Reports, 2022
Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh, Rajaa Daabool, Reem Hatem, Lina Al‐Soufi   +3 more
doaj   +2 more sources

Harlequin Ichthyosis: Case Report [PDF]

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2019
Harlequin ichthyosis is a rare autosomal recessive congenital disease in which neonates present generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, malformation of the auricular pavilion and typical facies.
Patrícia A. Couto, Marcela C. Pastore, Jessica C. N. Araújo, Cecilya M. Mota, Caroline A. R. Chirano, Valeria K. A. Ferreira, Sidharta Q. Gadelha, Elaine D. Melo, Patricia C. B. de Melo, Luciana M. Santos   +9 more
doaj   +3 more sources

Early escharotomy-like procedure for the prevention of extremity autoamputation in harlequin ichthyosis [PDF]

Biomedical Journal, 2021
Harlequin ichthyosis is a rare congenital disorder, which causes restrictive circumferential encasement of the trunk and limbs. Patients usually develop compartment syndrome and sequential cyanosis of limbs and digits, leading to autoamputation.
Yu-Ying Chu, Mei-Yin Lai, Han-Tsung Liao
doaj   +2 more sources

Harlequin Ichthyosis [PDF]

Acta Medica Iranica, 2009
It is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. This fatal disorder occur in both sexes and all races. In most circumstances the newborn die soon after birth Also
Hashemzadeh Ahmad, Heydarian Farhad
doaj   +5 more sources

Surgical Management of Harlequin Ichthyosis [PDF]

Plastic and Reconstructive Surgery, Global Open, 2019
Ilana G. Margulies, MS, Leah Harburg, BS, Elizabeth Zellner, MD   +2 more
doaj   +4 more sources